Canonical Allele Identifier: CA2175486084

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410986T= , CM000677.2:g.48410986T=	GRCh38
NC_000015.9:g.48703183T= , CM000677.1:g.48703183T=	GRCh37
NC_000015.8:g.46490475T=	NCBI36
NG_008805.2:g.239803A= , LRG_778:g.239803A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1428A=	ENSP00000453958.2:n.*1428A=
ENST00000682158.1:n.2001A=
ENST00000682170.1:n.2801A=
ENST00000682767.1:n.1917A=
ENST00000316623.10:c.*4A= MANE Select	ENSP00000325527.5:n.*4A=
ENST00000316623.9:c.*4A=	ENSP00000325527.5:n.*4A=
ENST00000559133.5:c.3989A=
NM_000138.4:c.*4A= , LRG_778t1:c.*4A=	NP_000129.3:n.*4A=
NM_000138.5:c.*4A= MANE Select	NP_000129.3:n.*4A=